Nicole de Leeuw

Summary

Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands

Publications

  1. doi request reprint SNP array analysis in constitutional and cancer genome diagnostics--copy number variants, genotyping and quality control
    N de Leeuw
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Cytogenet Genome Res 135:212-21. 2011
  2. pmc Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism
    Caroline Robberecht
    Department of Human Genetics, Catholic University Leuven, Leuven, Belgium
    Mol Cytogenet 5:19. 2012
  3. ncbi request reprint A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1
    Zehra Agha
    Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands
    Gene 538:30-5. 2014
  4. doi request reprint Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies
    Marjolein H Willemsen
    849 Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Eur J Med Genet 55:586-98. 2012
  5. ncbi request reprint Clinical significance of de novo and inherited copy-number variation
    Anneke T Vulto-van Silfhout
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 34:1679-87. 2013
  6. doi request reprint Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3
    Bart C W Kuipers
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Clin Dysmorphol 22:18-21. 2013
  7. doi request reprint Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature
    Dorothée C van Trier
    Department of Paediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands
    Eur J Med Genet 56:426-31. 2013
  8. doi request reprint An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations
    Anneke T Vulto-van Silfhout
    Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands
    Eur J Med Genet 56:471-4. 2013
  9. doi request reprint CEP89 is required for mitochondrial metabolism and neuronal function in man and fly
    Bregje W M van Bon
    Department of Human Genetics, Radboud University Medical Centre, 6500 HB, Nijmegen, The Netherlands
    Hum Mol Genet 22:3138-51. 2013
  10. doi request reprint Detection of clinically relevant copy number variants with whole-exome sequencing
    Joep de Ligt
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, 6500 HB, The Netherlands
    Hum Mutat 34:1439-48. 2013

Collaborators

Detail Information

Publications14

  1. doi request reprint SNP array analysis in constitutional and cancer genome diagnostics--copy number variants, genotyping and quality control
    N de Leeuw
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Cytogenet Genome Res 135:212-21. 2011
    ....
  2. pmc Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism
    Caroline Robberecht
    Department of Human Genetics, Catholic University Leuven, Leuven, Belgium
    Mol Cytogenet 5:19. 2012
    ..We show that in 2/9 the CNV originated during meiosis. The existence of two cell lines with 46 chromosomes thus resulted from two parallel trisomy rescue events during postzygotic mitoses...
  3. ncbi request reprint A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1
    Zehra Agha
    Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands
    Gene 538:30-5. 2014
    ....
  4. doi request reprint Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies
    Marjolein H Willemsen
    849 Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Eur J Med Genet 55:586-98. 2012
    ..The prevalence of X-chromosome copy number variations in this cohort was 57/4407 (∼1.3%), of which 15 (0.3%) were interpreted as (likely) pathogenic...
  5. ncbi request reprint Clinical significance of de novo and inherited copy-number variation
    Anneke T Vulto-van Silfhout
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 34:1679-87. 2013
    ..001), pointing to a combinatorial effect of the additional CNVs. In addition, we identified 20 de novo single-gene CNVs that directly indicate novel genes for ID/MCA, including ZFHX4, ANKH, DLG2, MPP7, CEP89, TRIO, ASTN2, and PIK3C3. ..
  6. doi request reprint Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3
    Bart C W Kuipers
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Clin Dysmorphol 22:18-21. 2013
    ..The overlapping deleted region harbors six genes (RREB1, NRN1, CAGE1, LY86, SSR1, and F13A1), of which NRN1 and RREB1 are considered as candidate genes for the intellectual disability and the overlapping dysmorphism, respectively...
  7. doi request reprint Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature
    Dorothée C van Trier
    Department of Paediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands
    Eur J Med Genet 56:426-31. 2013
    ..A careful cardiac evaluation consisting of physical examination, ECG and ultrasound examination should be performed in all individuals diagnosed with the 18q deletion syndrome...
  8. doi request reprint An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations
    Anneke T Vulto-van Silfhout
    Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands
    Eur J Med Genet 56:471-4. 2013
    ..This article gives an overview of the current status and future plans of the online ECARUCA database. ..
  9. doi request reprint CEP89 is required for mitochondrial metabolism and neuronal function in man and fly
    Bregje W M van Bon
    Department of Human Genetics, Radboud University Medical Centre, 6500 HB, Nijmegen, The Netherlands
    Hum Mol Genet 22:3138-51. 2013
    ..We conclude that CEP89 proteins play an important role in mitochondrial metabolism, especially complex IV activity, and are required for neuronal and cognitive function across evolution. ..
  10. doi request reprint Detection of clinically relevant copy number variants with whole-exome sequencing
    Joep de Ligt
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, 6500 HB, The Netherlands
    Hum Mutat 34:1439-48. 2013
    ..The combined detection of point mutations, indels, and CNVs makes WES a very attractive first-tier diagnostic test for genetically heterogeneous disorders. ..
  11. ncbi request reprint Early presentation of cystic kidneys in a family with a homozygous INVS mutation
    Machteld M Oud
    Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands Radboud Institute for Health Sciences, Radboud University Medical Centre, Nijmegen, the Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands
    Am J Med Genet A 164:1627-34. 2014
    ..We also identified that the fetuses had mild skeletal abnormalities, including shortening and bowing of long bones, which may expand the phenotypic spectrum associated with INVS mutations. © 2014 Wiley Periodicals, Inc. ..
  12. doi request reprint Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion
    Farmaditya E P Mundhofir
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Gene 511:451-4. 2012
    ..Based upon this study, we suggest that the recombinant chromosome 9 phenotype is mainly the result of duplication of a 3.4 Mb region of chromosome 9q34.11q34.13...
  13. doi request reprint Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experience
    Brigitte H W Faas
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Prenat Diagn 32:362-70. 2012
    ....
  14. pmc Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism
    David A Koolen
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Hum Genet 20:729-33. 2012
    ..31 microdeletion for future pregnancies is higher than by chance alone and testing for mosaicism in the parents might be considered as a helpful tool in the genetic counselling...